Canonical Allele Identifier: CA619857530

Gene: POLG POLGARF

Linked Data

• dbSNP Id: rs1193673166
• gnomAD v2: 15-89876869-C-CCGA
• gnomAD v4: 15-89333638-C-CCGA
• MyVariant Identifiers: chr15:g.89876869_89876870insCGA (hg19) ; chr15:g.89333638_89333639insCGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333638_89333639insCGA , CM000677.2:g.89333638_89333639insCGA	GRCh38
NC_000015.9:g.89876869_89876870insCGA , CM000677.1:g.89876869_89876870insCGA	GRCh37
NC_000015.8:g.87677873_87677874insCGA	NCBI36
NG_008218.1:g.6157_6158insTCG
NG_008218.2:g.6157_6158insTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.116_117insTCG (POLG)	ENSP00000516154.1:p.Gln39delinsHisArg
ENST00000706918.1:c.171_172insTCG (POLGARF)	ENSP00000516626.1:p.Ala57_Ala58insSer
ENST00000268124.11:c.116_117insTCG (POLG) MANE Select	ENSP00000268124.5:p.Gln39delinsHisArg
ENST00000635986.2:c.116_117insTCG (POLG)	ENSP00000490653.2:p.Gln39delinsHisArg
ENST00000636774.1:c.116_117insTCG (POLG)	ENSP00000489799.1:p.Gln39delinsHisArg
ENST00000650303.2:c.171_172insTCG (POLG)	ENSP00000497242.2:p.Ala57_Ala58insSer
ENST00000672071.1:n.314_315insTCG (POLG)
ENST00000268124.9:c.116_117insTCG (POLG)	ENSP00000268124.5:p.Gln39delinsHisArg
ENST00000442287.6:c.116_117insTCG (POLG)	ENSP00000399851.2:p.Gln39delinsHisArg
ENST00000631044.2:c.116_117insTCG (POLG)	ENSP00000486730.1:p.Gln39delinsHisArg
NM_001126131.1:c.116_117insTCG (POLG)	NP_001119603.1:p.Gln39delinsHisArg
NM_002693.2:c.116_117insTCG (POLG)	NP_002684.1:p.Gln39delinsHisArg
NM_001126131.2:c.116_117insTCG (POLG)	NP_001119603.1:p.Gln39delinsHisArg
NM_002693.3:c.116_117insTCG (POLG) MANE Select	NP_002684.1:p.Gln39delinsHisArg